Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs
51 0 1 1.9E-03 0 0
Generalized glycogen storage disease of infants
51 0 1 1.9E-03 0 0
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
51 0 1 1.9E-03 0 0
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune
51 0 1 1.9E-03 0 0
Increased variability in muscle fiber diameter
50 0 1 1.9E-03 0 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness
49 0 1 1.9E-03 0 0
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness
49 0 1 1.9E-03 0 0
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration
49 0 1 1.9E-03 0 0
CUI: C0023066
Disease: Laryngospasm
Laryngospasm
48 0 1 1.9E-03 0 0
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
48 0 1 1.9E-03 0 0
CUI: C0086439
Disease: Hypokinesia
Hypokinesia
47 0 1 1.9E-03 0 0
CUI: C0001916
Disease: Albinism
Albinism
46 0 1 1.9E-03 0 0
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
46 0 1 1.9E-03 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy
46 0 1 1.9E-03 0 0
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms
45 0 1 1.9E-03 0 0
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
45 0 1 1.9E-03 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
45 0 1 1.9E-03 0 0
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1
45 0 1 1.9E-03 0 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness
44 0 1 1.9E-03 0 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis
44 0 1 1.9E-03 0 0
CUI: C0546967
Disease: Posterior embryotoxon
Posterior embryotoxon
44 0 1 1.9E-03 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance
44 0 1 1.9E-03 0 0
CUI: C2718017
Disease: TDP-43 Proteinopathies
TDP-43 Proteinopathies
44 0 1 1.9E-03 0 0
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
42 0 1 1.9E-03 0 0
CUI: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb
42 0 1 1.9E-03 0 0